The DOI matches its Crossref record; 49 of the 49 references it cites were found in a registry or an index.
Gain-of-function mutations in sodium channel NaV1.9 in painful neuropathy
Open accessAbstract
Sodium channel Nav1.9 is expressed in peripheral nociceptive neurons, as well as visceral afferents, and has been shown to act as a threshold channel. Painful peripheral neuropathy represents a significant public health challenge and may involve gain-of-function variants in sodium channels that are preferentially expressed in peripheral sensory neurons. Although gain-of-function variants of peripheral sodium channels Nav1.7 and Nav1.8 have recently been found in painful small fibre neuropathy, the aetiology of peripheral neuropathy in many cases remains unknown. We evaluated 459 patients who were referred for possible painful peripheral neuropathy, and confirmed the diagnosis of small fibre neuropathy in a cohort of 393 patients (369 patients with pure small fibre neuropathy, and small fibre neuropathy together with large fibre involvement in an additional 24 patients). From this cohort of 393 patients with peripheral neuropathy, we sequenced SCN11A in 345 patients without mutations in SCN9A and SCN10A, and found eight variants in 12 patients. Functional profiling by electrophysiological recordings showed that these Nav1.9 mutations confer gain-of-function attributes to the channel, depolarize resting membrane potential of dorsal root ganglion neurons, enhance spontaneous firing, and increase evoked firing of these neurons. Our data show, for the first time, missense mutations of Nav1.9 in individuals with painful peripheral neuropathy. These genetic and functional observations identify missense mutations of Nav1.9 as a cause of painful peripheral neuropathy.
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Cites
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Self-citationThe NaV1.7 sodium channel: from molecule to man
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Self-citationSodium Channels in Normal and Pathological Pain
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Self-citationGain of function Na V 1.7 mutations in idiopathic small fiber neuropathy
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Self-citationGain-of-function Na v 1.8 mutations in painful neuropathy
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Cited by
The Role of Voltage-Gated Sodium Channels in Pain Signaling
Bennett, D. L., Clark, A. J., Huang, J., Waxman, S. G., & Dib-Hajj, S. D. (2019) · Physiological Reviews · doi:10.1152/physrev.00052.2017 · Cited by 730
Self-citationVoltage-gated sodium channels: structure, function, pharmacology, and clinical indications
de Lera Ruiz, M., & Kraus, R. L. (2015) · Journal of Medicinal Chemistry · doi:10.1021/jm501981g · Cited by 548
Advances in understanding nociception and neuropathic pain
St. John Smith, E. (2018) · Journal of Neurology · doi:10.1007/s00415-017-8641-6 · Cited by 282
Physiology and Pathophysiology of Itch
Cevikbas, F., & Lerner, E. A. (2020) · Physiological Reviews · doi:10.1152/physrev.00017.2019 · Cited by 282
Akiyama, T., & Carstens, E. (2013) · Neuroscience · doi:10.1016/j.neuroscience.2013.07.035 · Cited by 272
Metadata
- Authors
- Huang, J., Han, C., Estacion, M., Vasylyev, D., Hoeijmakers, J. G. J., Gerrits, M. M., Tyrrell, L., Lauria, G., Faber, C. G., Dib-Hajj, S. D., Merkies, I. S. J., & Waxman, S. G.
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2014-04-27
- Volume
- 137
- Issue
- 6
- Pages
- 1627-1642
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2120411432
- Cited by
- 288
- References
- 49
- FWCI
- 19.83
- Type
- journal article
- Language
- en
- Open access
- green
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- Huang, J., Han, C., Estacion, M., Vasylyev, D., Hoeijmakers, J. G. J., Gerrits, M. M., Tyrrell, L., Lauria, G., Faber, C. G., Dib-Hajj, S. D., Merkies, I. S. J., & Waxman, S. G. (2014). Gain-of-function mutations in sodium channel NaV1.9 in painful neuropathy. Brain. https://doi.org/10.1093/brain/awu079
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